Variant report

Variant	rs558252243
Chromosome Location	chr21:45285578-45285579
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F6	chr21:45284851-45285817	K562	blood:	n/a	chr21:45285680-45285689 chr21:45285214-45285224
2	POLR2A	chr21:45284024-45285976	K562	blood:	n/a	n/a
3	POLR2A	chr21:45285529-45285943	Hela-S3	cervix:	n/a	n/a
4	MAZ	chr21:45284844-45287036	K562	blood:	n/a	chr21:45286457-45286467
5	IRF1	chr21:45285548-45287165	K562	blood:	n/a	chr21:45285761-45285774 chr21:45285762-45285772 chr21:45286942-45286953 chr21:45286941-45286952 chr21:45285761-45285775 chr21:45286228-45286238 chr21:45286224-45286238 chr21:45285756-45285773 chr21:45285761-45285773 chr21:45285761-45285774 chr21:45286227-45286244 chr21:45286940-45286952 chr21:45286228-45286242 chr21:45285762-45285776 chr21:45285761-45285773 chr21:45286938-45286952 chr21:45285761-45285774 chr21:45286228-45286239 chr21:45286227-45286239 chr21:45285760-45285774 chr21:45285761-45285772 chr21:45286933-45286953 chr21:45285756-45285777 chr21:45285760-45285771
6	UBTF	chr21:45284998-45286403	K562	blood:	n/a	n/a
7	POLR2A	chr21:45285479-45285839	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr21:45285363-45287711	GM12878	blood:	n/a	n/a
9	POLR2A	chr21:45284920-45285993	K562	blood:	n/a	n/a
10	TAF1	chr21:45284797-45285964	K562	blood:	n/a	n/a
11	POLR2A	chr21:45285516-45286051	GM12891	blood:	n/a	n/a
12	POLR2A	chr21:45284137-45285814	HEK293	kidney:	n/a	n/a
13	POLR2A	chr21:45285391-45285930	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr21:45284050-45285928	K562	blood:	n/a	n/a
15	POLR2A	chr21:45285062-45286157	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr21:45284929-45287161	GM12892	blood:	n/a	n/a
17	HCFC1	chr21:45285522-45285798	K562	blood:	n/a	n/a
18	IRF1	chr21:45285564-45286531	K562	blood:	n/a	chr21:45285761-45285774 chr21:45285762-45285772 chr21:45285761-45285775 chr21:45286228-45286238 chr21:45286224-45286238 chr21:45285756-45285773 chr21:45285761-45285773 chr21:45285761-45285774 chr21:45286227-45286244 chr21:45286228-45286242 chr21:45285762-45285776 chr21:45285761-45285773 chr21:45285761-45285774 chr21:45286228-45286239 chr21:45286227-45286239 chr21:45285760-45285774 chr21:45285761-45285772 chr21:45285756-45285777 chr21:45285760-45285771
19	CHD1	chr21:45285373-45287061	GM12878	blood:	n/a	chr21:45285734-45285744 chr21:45285657-45285667
20	MXI1	chr21:45283199-45286803	SK-N-SH	brain:	n/a	n/a
21	POLR2A	chr21:45284046-45287067	GM12892	blood:	n/a	n/a
22	POLR2A	chr21:45284972-45287040	GM18505	blood:	n/a	n/a
23	YY1	chr21:45285552-45285981	GM12878	blood:	n/a	chr21:45285680-45285689 chr21:45285655-45285666
24	POLR2A	chr21:45285539-45285963	K562	blood:	n/a	n/a
25	ZBTB7A	chr21:45285027-45286015	ECC-1	luminal epithelium:	n/a	n/a
26	HEY1	chr21:45285316-45285967	K562	blood:	n/a	n/a
27	TAF1	chr21:45285528-45285933	GM12878	blood:	n/a	n/a
28	MAZ	chr21:45285137-45287045	GM12878	blood:	n/a	chr21:45286457-45286467
29	POLR2A	chr21:45285428-45286124	IMR90	lung:	n/a	n/a
30	PML	chr21:45285519-45287234	GM12878	blood:	n/a	n/a
31	ZMIZ1	chr21:45285478-45285925	K562	blood:	n/a	n/a
32	ZBTB7A	chr21:45285252-45285987	K562	blood:	n/a	n/a
33	HDAC2	chr21:45285569-45285902	K562	blood:	n/a	n/a
34	MAZ	chr21:45284050-45286026	IMR90	lung:	n/a	chr21:45284427-45284438 chr21:45284428-45284438 chr21:45284430-45284439 chr21:45284429-45284436 chr21:45284428-45284437
35	POLR2A	chr21:45285008-45285971	GM19193	blood:	n/a	n/a
36	POLR2A	chr21:45285560-45285991	SK-N-MC	brain:	n/a	n/a
37	POLR2A	chr21:45284743-45285945	GM12878	blood:	n/a	n/a
38	POLR2A	chr21:45284854-45287004	GM18526	blood:	n/a	n/a
39	YY1	chr21:45284933-45286035	K562	blood:	n/a	chr21:45285680-45285689 chr21:45285213-45285227 chr21:45285207-45285221 chr21:45285655-45285666
40	POLR2A	chr21:45284989-45285866	HepG2	liver:	n/a	n/a
41	CCNT2	chr21:45285022-45285986	K562	blood:	n/a	n/a
42	TAF1	chr21:45284928-45286034	K562	blood:	n/a	n/a
43	CTBP2	chr21:45285510-45285793	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr21:45284749-45285963	GM12878	blood:	n/a	n/a
45	UBTF	chr21:45284066-45286398	K562	blood:	n/a	n/a
46	YY1	chr21:45285308-45285909	HepG2	liver:	n/a	chr21:45285680-45285689 chr21:45285655-45285666
47	ZBTB7A	chr21:45284019-45285979	K562	blood:	n/a	n/a
48	POLR2A	chr21:45285567-45287070	GM12878	blood:	n/a	n/a
49	TAF1	chr21:45285547-45286003	ECC-1	luminal epithelium:	n/a	n/a
50	ZC3H11A	chr21:45285536-45285665	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:45283298..45287513-chr21:45338855..45343382,5	K562	blood:
2	chr21:45283616..45286882-chr21:45299913..45305661,6	MCF-7	breast:
3	chr21:45284242..45287080-chr21:45339493..45341946,2	MCF-7	breast:
4	chr21:45282036..45289054-chr21:45334704..45338842,9	K562	blood:
5	chr21:45226367..45233141-chr21:45284145..45288607,11	K562	blood:
6	chr21:45209410..45212282-chr21:45284427..45288210,3	K562	blood:
7	chr21:45282600..45286741-chr21:45429139..45433009,5	MCF-7	breast:
8	chr21:45226284..45237567-chr21:45281864..45289573,19	K562	blood:
9	chr21:45209348..45212282-chr21:45284427..45288210,4	K562	blood:
10	chr21:45209429..45212325-chr21:45284308..45286024,2	MCF-7	breast:
11	chr21:45228592..45232844-chr21:45283509..45286625,5	MCF-7	breast:
12	chr21:45285221..45285740-chr21:45337793..45338672,2	MCF-7	breast:
13	chr21:45283663..45287678-chr21:45338795..45345768,12	K562	blood:
14	chr21:45283737..45286588-chr21:45430466..45433524,3	K562	blood:
15	chr21:45284985..45287311-chr21:45344207..45345768,2	K562	blood:
16	chr21:45284356..45288156-chr21:45335500..45338176,5	K562	blood:
17	chr21:45285418..45288376-chr21:45321880..45324021,2	K562	blood:
18	chr21:45282965..45285916-chr21:45430237..45433854,8	MCF-7	breast:

Variant related genes	Relation type
AGPAT3	TF binding region
ENSG00000160218	Chromatin interaction
ENSG00000160216	Chromatin interaction
ENSG00000160214	Chromatin interaction
ENSG00000199598	Chromatin interaction
ENSG00000215458	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531545	chr21:45095397-45395904	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv913882	chr21:45151874-45370715	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv834107	chr21:45155325-45294546	Enhancers Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
5	nsv834108	chr21:45178037-45369641	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv1066284	chr21:45249549-45343314	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv3538	chr21:45267674-45297159	Enhancers Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv3389400	chr21:45283349-45286397	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	esv3438548	chr21:45283674-45286522	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45283400-45285600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
2	chr21:45283600-45286400	Active TSS	Fetal Brain Female	brain
3	chr21:45283800-45285800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr21:45283800-45286000	Active TSS	Hela-S3	cervix
5	chr21:45283800-45287200	Active TSS	HepG2	liver
6	chr21:45284000-45285600	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr21:45284000-45285800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr21:45284000-45286000	Active TSS	NH-A	brain
9	chr21:45284000-45286400	Active TSS	Brain Angular Gyrus	brain
10	chr21:45284000-45286400	Active TSS	Colonic Mucosa	Colon
11	chr21:45284000-45286400	Active TSS	Psoas Muscle	Psoas
12	chr21:45284000-45286400	Active TSS	Right Ventricle	heart
13	chr21:45284000-45286400	Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr21:45284000-45286600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
15	chr21:45284000-45286600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr21:45284000-45286600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr21:45284000-45286600	Active TSS	Aorta	Aorta
18	chr21:45284000-45287000	Active TSS	NHLF	lung
19	chr21:45284000-45287400	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr21:45284200-45285600	Weak transcription	Fetal Lung	lung
21	chr21:45284200-45285800	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr21:45284200-45286000	Active TSS	H9 Cell Line	embryonic stem cell
23	chr21:45284200-45286000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr21:45284200-45286000	Active TSS	Brain Germinal Matrix	brain
25	chr21:45284200-45286000	Active TSS	Sigmoid Colon	Sigmoid Colon
26	chr21:45284200-45286000	Active TSS	Small Intestine	intestine
27	chr21:45284200-45286400	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr21:45284200-45286400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
29	chr21:45284200-45286400	Active TSS	Fetal Intestine Small	intestine
30	chr21:45284200-45286400	Active TSS	Pancreas	Pancrea
31	chr21:45284200-45286400	Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr21:45284200-45286400	Active TSS	HSMM	muscle
33	chr21:45284200-45286400	Active TSS	NHEK	skin
34	chr21:45284400-45285600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr21:45284400-45285600	Weak transcription	Placenta	Placenta
36	chr21:45284400-45285600	Weak transcription	Stomach Mucosa	stomach
37	chr21:45284400-45285600	Active TSS	HMEC	breast
38	chr21:45284400-45285800	Active TSS	Primary B cells from cord blood	blood
39	chr21:45284400-45285800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr21:45284400-45285800	Active TSS	Thymus	Thymus
41	chr21:45284400-45286000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr21:45284400-45286000	Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr21:45284400-45286000	Active TSS	Spleen	Spleen
44	chr21:45284400-45286200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr21:45284400-45286200	Active TSS	Fetal Muscle Leg	muscle
46	chr21:45284400-45286400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr21:45284400-45286400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr21:45284400-45286400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr21:45284400-45286400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr21:45284400-45286400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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